Shining a light on melanomas that aren't caused by the sun

Shining a light on melanomas that aren't caused by the sun

4 May 2017

‘Slip, slop, slap’ is synonymous with being Australian and playing it safe in the sun. These sun smart rules reduce our chances of getting melanoma of the skin. However, new research tells a different story for those affected by rarer forms of melanoma.

The genetic study, led by Australian researchers at Melanoma Institute Australia, QIMR Berghofer Medical Research Institute and The University of Sydney as part of the Australian Melanoma Genome Project, has found that melanomas on the hands and feet (known as acral) and internal surfaces (known as mucosal) are not linked to ultraviolet (UV) radiation. This is in contrast to melanoma of the skin, which is strongly related to UV radiation.

The research, published today in the prestigious Nature journal, shows that acral and mucosal melanoma have different causes to skin melanoma. This has implications for preventing and treating these forms of melanoma, which occur worldwide.

“This is by far the largest study to have looked at the whole genome in melanoma, and it has proven these less common melanomas are strikingly different in terms of their causes,” says Professor Richard Scolyer, Conjoint Medical Director of Melanoma Institute Australia and a lead author.

Every year in Australia, up to 420 people are diagnosed with acral or mucosal melanomas. They affect people of all ethnic backgrounds, and are the most common forms of melanoma in people with very dark skin. These forms of melanoma often behave more aggressively, are harder to diagnose and have a poorer outcome compared to skin melanoma.

Treatment for skin melanoma has advanced rapidly in recent years, with therapies tripling the life expectancy of some advanced melanoma patients. For the first time, this research sheds light on why revolutionary treatments—many of which have been pioneered at Melanoma Institute Australia—don’t work as well for acral or mucosal melanomas.

“Acral and mucosal melanomas occur all over the world, but they have been even more challenging to treat than skin melanoma,” says Professor Nicholas Hayward, a lead author from QIMR Berghofer Medical Research Institute. “Knowing these are really different diseases to skin melanoma is important for development of future therapies.”

The study also found acral and mucosal melanomas have much less gene damage compared with skin melanoma and the damage “footprints" did not match those of any known causes of cancer, like sun exposure. This means we must target new research to discover what is causing these cancers, and what can prevent them.

While they had fewer gene drivers that could be targeted for therapy, new ones were found. Some mucosal melanomas unexpectedly had mutations in the SF3B1 and GNAQ genes, which had previously only been connected to melanoma of the eye.

Understanding which gene mutations are driving an individual tumour is the basis of personalised cancer medicine. This is the first study to survey the entire DNA sequence of melanomas, not just the genes themselves, giving 50 times more information than in previous work. Many genes were found to have damage in their control regions, the so-called “dark matter” of our genome, and these may be previously unsuspected drivers of melanoma.

“This is a world-leading genetic analysis of melanoma,” explains Professor Graham Mann, a lead author at Melanoma Institute Australia. “We are working hard now to turn these discoveries about the uniqueness of acral and mucosal melanoma, and about the new control mutations, into better results for our melanoma patients.”

Publication: Hayward, N.K. et al. Whole-genome landscapes of major melanoma subtypes. Nature. 03 May 2017. doi: 10.1038/nature22071. [Epub ahead of print]

Download the media release:

International collaboration the key to increasing survival
24 Oct 2018

International collaboration the key to increasing survival

"International collaboration remains the key to ensuring this pioneering research continues so we can increase survival rates for advanced melanoma patients and move us closer to achieving our goal of zero deaths from melanoma," says Professor Georgina Long, of the clinical trial results presented at ESMO 2018.

High-risk Stage III melanoma patients to benefit from Australia/Netherlands collaboration
23 Oct 2018

High-risk Stage III melanoma patients to benefit from Australia/Netherlands collaboration

Research that could change clinical practice for high-risk Stage III melanoma patients has been presented at the European Society for Medical Oncology (ESMO) Congress in Munich.

Monthly dose of immunotherapy allows flexibility for patients undergoing treatment
11 Oct 2018

Monthly dose of immunotherapy allows flexibility for patients undergoing treatment

A larger, monthly dose of immunotherapy can give melanoma patients more freedom without sacrificing effectiveness.

Australia's best minds in melanoma research converge on Melbourne
08 Oct 2018

Australia's best minds in melanoma research converge on Melbourne

The Australasian Melanoma Conference, hosted by the Australasian Melanoma Conference Committee, was held in Melbourne on the weekend, with many of MIA's clinicians in attendance.

Nobel Prize for novel cancer therapies
04 Oct 2018

Nobel Prize for novel cancer therapies

The two men who discovered checkpoint inhibitors, the brakes of the immune system, were awarded the Nobel Prize in Physiology or Medicine on Monday, October 1.

World Health Organisation launches 4th edition of Classification of Skin Tumours
31 Aug 2018

World Health Organisation launches 4th edition of Classification of Skin Tumours

The World Health Organisation (WHO) is releasing the 4th edition of Classification of Skin Tumours.

Professor John Thompson awarded prestigious 2018 RPA Foundation Research Medal
31 Aug 2018

Professor John Thompson awarded prestigious 2018 RPA Foundation Research Medal

Former Executive Director of Melanoma Institute Australia Professor John Thompson awarded the prestigious 2018 RPA Foundation Research Medal.

Support PBS listing for pembrolizumab
23 Aug 2018

Support PBS listing for pembrolizumab

Clinicians, patients and other stakeholders in the cancer community are invited to make submissions in support of the PBS listing for pembrolizumab.

World Congress on Cancers of the Skin 2018
17 Aug 2018

World Congress on Cancers of the Skin 2018

The World Congress on Cancers of the Skin 2018 has featured many minds from MIA sharing their expertise and wealth of knowledge with over 1000 attendees from around the world.

Melanoma Institute Australia welcomes new CEO Matthew Browne
09 Aug 2018

Melanoma Institute Australia welcomes new CEO Matthew Browne

Melanoma Institute Australia is delighted to announce the appointment of Matthew Browne as Chief Executive Officer (CEO).

Melanoma in Practice: Nurse Conference
26 Jul 2018

Melanoma in Practice: Nurse Conference

It was a full house this week at Melanoma Institute Australia thanks to our ‘Melanoma in Practice: Nurse Conference’. 

Reducing the risk of melanoma in young adults
19 Jul 2018

Reducing the risk of melanoma in young adults

A new study from The University of Sydney shows that sunscreen reduces melanoma risk by 40 per cent when used from a young age.

Melanoma Institute Australia launches free e-learning education portal
20 Jun 2018

Melanoma Institute Australia launches free e-learning education portal

Melanoma Institute Australia (MIA) has launched a free e-learning portal to educate healthcare professionals about the latest advances in melanoma diagnosis and treatment.

David Day and a lifetime of missed moments
08 Jun 2018

David Day and a lifetime of missed moments

When David lost his life last year, he was 33, with three daughters under six.

Australian melanoma experts share latest breakthroughs with world's best oncologists
06 Jun 2018

Australian melanoma experts share latest breakthroughs with world's best oncologists

ASCO 2018 brings together the world's best in oncology from around the world. 

ASCO 2018 – the important role of clinical trials
06 Jun 2018

ASCO 2018 – the important role of clinical trials

Clinical trials are just that – trials in a clinical setting to evaluate the effectiveness or otherwise of individual and combination treatments.

MIA Scoops Awards at the International Academy of Pathology
04 Jun 2018

MIA Scoops Awards at the International Academy of Pathology

Melanoma Institute Australia scooped the award pool at the Annual Scientific Meeting of the International Academy of Pathology. 

Updated Clinical Guidelines for Melanoma
25 May 2018

Updated Clinical Guidelines for Melanoma

Melanoma patients across Australia will benefit from the release of updated clinical care guidelines.

Melanoma and Marital Status: A Study
11 May 2018

Melanoma and Marital Status: A Study

An American study has discovered a link between early detection and marital status in melanoma diagnosis. 

A weekend in Paris talking all things pathology...
02 May 2018

A weekend in Paris talking all things pathology...

An international course on melanoma pathology in Paris, France co-directed by Professor Richard Scolyer took place over the weekend.